Incidental Mutation 'IGL03052:Rxfp2'
| ID |
409119 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rxfp2
|
| Ensembl Gene |
ENSMUSG00000053368 |
| Gene Name |
relaxin/insulin-like family peptide receptor 2 |
| Synonyms |
LGR8, Gpr106, Great |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03052 (G1)
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
149942140-150005649 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 149966645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065745]
[ENSMUST00000110496]
[ENSMUST00000201612]
|
| AlphaFold |
Q91ZZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065745
|
| SMART Domains |
Protein: ENSMUSP00000067897
Gene: ENSMUSG00000053368
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LDLa
|
27 |
65 |
2.55e-11 |
SMART |
|
LRRNT
|
93 |
124 |
3.83e0 |
SMART |
|
LRR
|
120 |
142 |
1.71e2 |
SMART |
|
LRR
|
143 |
166 |
6.77e0 |
SMART |
|
LRR_TYP
|
167 |
190 |
2.84e-5 |
SMART |
|
LRR
|
191 |
214 |
7.36e0 |
SMART |
|
LRR
|
215 |
238 |
1.26e1 |
SMART |
|
LRR
|
239 |
262 |
2.61e1 |
SMART |
|
LRR
|
263 |
286 |
8.98e1 |
SMART |
|
LRR_TYP
|
287 |
310 |
2.24e-3 |
SMART |
|
LRR
|
311 |
334 |
1.15e1 |
SMART |
|
LRR
|
335 |
358 |
2.14e1 |
SMART |
|
Pfam:7tm_1
|
415 |
674 |
1.4e-26 |
PFAM |
|
low complexity region
|
682 |
695 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110496
|
| SMART Domains |
Protein: ENSMUSP00000106122
Gene: ENSMUSG00000053368
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LDLa
|
27 |
65 |
2.55e-11 |
SMART |
|
LRRNT
|
93 |
124 |
3.83e0 |
SMART |
|
LRR
|
120 |
142 |
1.71e2 |
SMART |
|
LRR
|
143 |
166 |
6.77e0 |
SMART |
|
LRR_TYP
|
167 |
190 |
2.84e-5 |
SMART |
|
LRR
|
191 |
214 |
7.36e0 |
SMART |
|
LRR
|
215 |
238 |
1.26e1 |
SMART |
|
LRR
|
239 |
262 |
2.61e1 |
SMART |
|
LRR
|
263 |
286 |
2.82e0 |
SMART |
|
LRR
|
287 |
310 |
1.15e1 |
SMART |
|
LRR
|
311 |
334 |
2.14e1 |
SMART |
|
Pfam:7tm_1
|
391 |
650 |
1.5e-27 |
PFAM |
|
low complexity region
|
658 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143989
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201612
|
| SMART Domains |
Protein: ENSMUSP00000144536
Gene: ENSMUSG00000053368
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LDLa
|
27 |
65 |
1.3e-13 |
SMART |
|
LRRNT
|
93 |
124 |
1.9e-2 |
SMART |
|
LRR
|
120 |
142 |
7.4e-1 |
SMART |
|
LRR
|
143 |
166 |
2.9e-2 |
SMART |
|
LRR_TYP
|
167 |
190 |
1.2e-7 |
SMART |
|
LRR
|
229 |
252 |
5.4e-2 |
SMART |
|
LRR
|
253 |
276 |
1.1e-1 |
SMART |
|
LRR
|
277 |
300 |
1.2e-2 |
SMART |
|
LRR
|
301 |
324 |
5e-2 |
SMART |
|
LRR
|
325 |
348 |
9.3e-2 |
SMART |
|
Pfam:7tm_1
|
405 |
664 |
1.5e-24 |
PFAM |
|
low complexity region
|
672 |
685 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Male homozygotes for a targeted null mutation exhibit bilateral intraabdominal cryptorchidism and sterility associated with a failure in the differentiation of the gubernaculae, ligaments that control testicular movement during development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
C |
4: 155,987,815 (GRCm39) |
F517S |
probably damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,881,894 (GRCm39) |
V267A |
probably benign |
Het |
| Asap1 |
A |
G |
15: 64,025,683 (GRCm39) |
|
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,793,788 (GRCm39) |
|
probably benign |
Het |
| Ccdc73 |
C |
A |
2: 104,782,281 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Cct5 |
A |
T |
15: 31,597,633 (GRCm39) |
H85Q |
probably damaging |
Het |
| Cfap69 |
A |
C |
5: 5,639,206 (GRCm39) |
L238R |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,668,628 (GRCm39) |
T470S |
probably benign |
Het |
| Cnga4 |
T |
C |
7: 105,053,932 (GRCm39) |
S12P |
probably benign |
Het |
| Cyp2c29 |
C |
T |
19: 39,275,662 (GRCm39) |
T34M |
possibly damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,329 (GRCm39) |
D49G |
possibly damaging |
Het |
| Dab2ip |
A |
G |
2: 35,533,909 (GRCm39) |
Q45R |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,858,240 (GRCm39) |
V164A |
probably damaging |
Het |
| Dnaaf8 |
A |
T |
16: 4,795,358 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7c |
A |
G |
1: 46,671,309 (GRCm39) |
Y1566C |
probably damaging |
Het |
| Dnase1l2 |
T |
C |
17: 24,659,968 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
G |
T |
11: 34,182,853 (GRCm39) |
N1593K |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,914,506 (GRCm39) |
M530I |
probably benign |
Het |
| Epm2a |
T |
C |
10: 11,332,974 (GRCm39) |
V269A |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Fgf2 |
A |
G |
3: 37,403,161 (GRCm39) |
S55G |
probably benign |
Het |
| Frem3 |
C |
T |
8: 81,341,159 (GRCm39) |
P1151S |
probably damaging |
Het |
| Gm15737 |
T |
C |
6: 92,846,481 (GRCm39) |
|
probably benign |
Het |
| Gpi-ps |
T |
A |
8: 5,689,816 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin-ps6 |
T |
C |
7: 106,022,902 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa3 |
G |
A |
6: 52,147,267 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
A |
G |
4: 92,079,287 (GRCm39) |
L178P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,281,188 (GRCm39) |
I3770V |
probably damaging |
Het |
| Mapk15 |
G |
T |
15: 75,865,731 (GRCm39) |
R8L |
probably benign |
Het |
| Mecom |
C |
T |
3: 30,015,112 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
C |
T |
10: 80,505,496 (GRCm39) |
R154H |
probably benign |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,341 (GRCm39) |
V70E |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,140,876 (GRCm39) |
K570E |
possibly damaging |
Het |
| Myo5c |
G |
T |
9: 75,159,798 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,173,442 (GRCm39) |
|
probably benign |
Het |
| Or52m2 |
C |
T |
7: 102,263,656 (GRCm39) |
R180Q |
probably benign |
Het |
| Or5b124 |
T |
C |
19: 13,611,090 (GRCm39) |
I205T |
probably benign |
Het |
| Or7g25 |
A |
T |
9: 19,159,938 (GRCm39) |
Y252* |
probably null |
Het |
| Pcca |
A |
T |
14: 123,124,513 (GRCm39) |
M695L |
probably benign |
Het |
| Pcdha2 |
A |
T |
18: 37,074,670 (GRCm39) |
D767V |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,189 (GRCm39) |
D16N |
probably benign |
Het |
| Prr11 |
T |
C |
11: 86,994,478 (GRCm39) |
N56S |
possibly damaging |
Het |
| Sacs |
G |
T |
14: 61,445,307 (GRCm39) |
G2451V |
probably damaging |
Het |
| Scarb1 |
G |
A |
5: 125,371,163 (GRCm39) |
A4V |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,828,827 (GRCm39) |
C162Y |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,109,447 (GRCm39) |
T475K |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,594,311 (GRCm39) |
I59L |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,437,387 (GRCm39) |
G1382R |
probably damaging |
Het |
| Stx16 |
C |
A |
2: 173,934,231 (GRCm39) |
P145T |
probably benign |
Het |
| Tnrc18 |
G |
A |
5: 142,760,974 (GRCm39) |
A674V |
unknown |
Het |
| Uqcrq |
A |
G |
11: 53,321,476 (GRCm39) |
V14A |
possibly damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,652,799 (GRCm39) |
E497V |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,267,115 (GRCm39) |
I166K |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,302,361 (GRCm39) |
D1010G |
probably benign |
Het |
| Wnk1 |
T |
A |
6: 119,921,760 (GRCm39) |
|
probably benign |
Het |
| Zfand3 |
T |
A |
17: 30,279,798 (GRCm39) |
M29K |
probably benign |
Het |
|
| Other mutations in Rxfp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Rxfp2
|
APN |
5 |
149,989,893 (GRCm39) |
missense |
probably benign |
|
|
IGL00984:Rxfp2
|
APN |
5 |
149,990,597 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02475:Rxfp2
|
APN |
5 |
149,987,151 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02637:Rxfp2
|
APN |
5 |
149,979,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02992:Rxfp2
|
APN |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03203:Rxfp2
|
APN |
5 |
149,987,145 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0158:Rxfp2
|
UTSW |
5 |
149,975,093 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0394:Rxfp2
|
UTSW |
5 |
149,990,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0499:Rxfp2
|
UTSW |
5 |
149,989,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0576:Rxfp2
|
UTSW |
5 |
149,961,712 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0720:Rxfp2
|
UTSW |
5 |
149,967,584 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1172:Rxfp2
|
UTSW |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1173:Rxfp2
|
UTSW |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1174:Rxfp2
|
UTSW |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1175:Rxfp2
|
UTSW |
5 |
149,975,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1606:Rxfp2
|
UTSW |
5 |
149,983,362 (GRCm39) |
missense |
probably benign |
|
|
R1720:Rxfp2
|
UTSW |
5 |
149,966,564 (GRCm39) |
nonsense |
probably null |
|
|
R2040:Rxfp2
|
UTSW |
5 |
149,993,677 (GRCm39) |
missense |
probably benign |
|
|
R3029:Rxfp2
|
UTSW |
5 |
149,966,595 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3905:Rxfp2
|
UTSW |
5 |
149,979,450 (GRCm39) |
splice site |
probably null |
|
|
R4056:Rxfp2
|
UTSW |
5 |
149,975,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4156:Rxfp2
|
UTSW |
5 |
149,975,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4282:Rxfp2
|
UTSW |
5 |
149,993,735 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4418:Rxfp2
|
UTSW |
5 |
149,972,265 (GRCm39) |
missense |
probably benign |
|
|
R4935:Rxfp2
|
UTSW |
5 |
149,975,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5010:Rxfp2
|
UTSW |
5 |
149,990,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5286:Rxfp2
|
UTSW |
5 |
149,958,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Rxfp2
|
UTSW |
5 |
149,993,725 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5374:Rxfp2
|
UTSW |
5 |
149,993,725 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5530:Rxfp2
|
UTSW |
5 |
149,980,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Rxfp2
|
UTSW |
5 |
149,966,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6021:Rxfp2
|
UTSW |
5 |
149,987,202 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6211:Rxfp2
|
UTSW |
5 |
149,967,591 (GRCm39) |
splice site |
probably null |
|
|
R6401:Rxfp2
|
UTSW |
5 |
149,966,595 (GRCm39) |
missense |
probably benign |
|
|
R6841:Rxfp2
|
UTSW |
5 |
149,942,210 (GRCm39) |
start gained |
probably benign |
|
|
R6981:Rxfp2
|
UTSW |
5 |
149,972,313 (GRCm39) |
splice site |
probably null |
|
|
R7012:Rxfp2
|
UTSW |
5 |
150,004,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7032:Rxfp2
|
UTSW |
5 |
149,993,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Rxfp2
|
UTSW |
5 |
149,966,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7205:Rxfp2
|
UTSW |
5 |
149,983,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7205:Rxfp2
|
UTSW |
5 |
149,983,364 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7209:Rxfp2
|
UTSW |
5 |
149,976,563 (GRCm39) |
splice site |
probably null |
|
|
R7468:Rxfp2
|
UTSW |
5 |
149,990,801 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7475:Rxfp2
|
UTSW |
5 |
149,973,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8181:Rxfp2
|
UTSW |
5 |
149,987,201 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8258:Rxfp2
|
UTSW |
5 |
149,983,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8259:Rxfp2
|
UTSW |
5 |
149,983,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8443:Rxfp2
|
UTSW |
5 |
149,973,068 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R8470:Rxfp2
|
UTSW |
5 |
149,993,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8796:Rxfp2
|
UTSW |
5 |
149,942,262 (GRCm39) |
start gained |
probably benign |
|
|
R8906:Rxfp2
|
UTSW |
5 |
149,989,888 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9515:Rxfp2
|
UTSW |
5 |
149,979,444 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9682:Rxfp2
|
UTSW |
5 |
149,966,564 (GRCm39) |
nonsense |
probably null |
|
|
R9732:Rxfp2
|
UTSW |
5 |
149,993,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Rxfp2
|
UTSW |
5 |
149,975,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rxfp2
|
UTSW |
5 |
149,972,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation